Varaico: Literature-Extracted Genetic Variants

KCND2

187 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

Shal-typeaa 3–29UCSCShal-type voltage-gated potassium channels, N-terminal

BTB_2aa 43–132UCSCBTB/POZ domain

Ion_transaa 184–417UCSCIon transport protein

DUF3399aa 470–546UCSCDomain of unknown function (DUF3399)

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily D member 2

HGNC Alias Symbols

Kv4.2; RK5; KIAA1044

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012281.3

p.A2T

c.4G>A

Surrounding Variants

1 paper

NM_012281.3

p.M1insFs

c.2dupT

1 paper

NM_012281.3

p.V5delFs

c.13delG

1 paper

NM_012281.3

p.G4A

c.11G>C

1 paper

NM_012281.3

p.A7T

c.19G>A

1 paper

NM_012281.3

p.G18E

c.53G>A

2 papers

NM_012281.3

p.M20K

c.59T>A

1 paper

NM_012281.3

p.M27K

c.80T>A

1 paper

NM_012281.3

p.K36Q

c.106A>C

1 paper

NM_012281.3

p.L45M

c.133C>A

1 paper

NM_012281.3

p.T58I

c.173C>T

1 paper

NM_012281.3

p.T58T

c.174C>G

1 paper

NM_012281.3

p.R61_T65delFs

c.182_194del13